ZMPSTE24 : zinc metallopeptidase STE24

Description

The ZMPSTE24 gene encodes a zinc metalloproteinase responsible for the final step in the processing of prelamin A, a protein essential for nuclear structure and function. This gene plays a critical role in removing a farnesyl group and a C-terminal tripeptide from prelamin A, converting it to mature lamin A. This processing is crucial for maintaining nuclear integrity, regulating gene expression, and ensuring proper cell division. Mutations in ZMPSTE24 can lead to the accumulation of unprocessed prelamin A, which can disrupt nuclear function and cause various diseases.

Associated Diseases

• Hutchinson-Gilford Progeria Syndrome (HGPS)
• Mandibuloacral Dysplasia (MAD)
• Restrictive Dermopathy
• Neonatal Progeroid Syndrome

Did you know?

Mutations in ZMPSTE24 cause progeria syndromes, characterized by premature aging.